Canonical Allele Identifier: CA082794

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053508C>T , CM000663.2:g.201053508C>T	GRCh38
NC_000001.10:g.201022636C>T , CM000663.1:g.201022636C>T	GRCh37
NC_000001.9:g.199289259C>T	NCBI36
NG_009816.1:g.64059G>A
NG_009816.2:g.64059G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.3746G>A MANE Select	NP_000060.2:p.Arg1249Gln
ENST00000362061.4:c.3746G>A MANE Select	ENSP00000355192.3:p.Arg1249Gln
NM_000069.2:c.3746G>A	NP_000060.2:p.Arg1249Gln
ENST00000362061.3:c.3746G>A	ENSP00000355192.3:p.Arg1249Gln
ENST00000367338.7:c.3689G>A	ENSP00000356307.3:p.Arg1230Gln
ENST00000679417.1:c.*2909G>A	ENSP00000506706.1:n.*2909G>A
ENST00000680051.1:n.872G>A
ENST00000680059.1:c.*1264G>A	ENSP00000504944.1:n.*1264G>A
ENST00000681078.1:c.3746G>A	ENSP00000506645.1:p.Arg1249Gln
ENST00000681190.1:c.3746G>A	ENSP00000506428.1:p.Arg1249Gln
ENST00000681874.1:c.3686G>A	ENSP00000505162.1:p.Arg1229Gln
XM_005245478.2:c.3689G>A	XP_005245535.1:p.Arg1230Gln
XM_005245478.3:c.3689G>A	XP_005245535.1:p.Arg1230Gln